Incidental Mutation 'R5887:Crocc2'
| ID |
456143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crocc2
|
| Ensembl Gene |
ENSMUSG00000084989 |
| Gene Name |
ciliary rootlet coiled-coil, rootletin family member 2 |
| Synonyms |
E030010N08Rik, LOC381284 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93096447-93158794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93121838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 662
(H662Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000138595]
|
| AlphaFold |
F6XLV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138595
AA Change: H662Q
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120588
Gene: ENSMUSG00000084989
AA Change: H662Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
82 |
N/A |
INTRINSIC |
|
Pfam:Rootletin
|
89 |
260 |
5.1e-24 |
PFAM |
|
coiled coil region
|
281 |
346 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
381 |
424 |
9.68e-9 |
PROSPERO |
|
internal_repeat_3
|
389 |
414 |
5.46e-6 |
PROSPERO |
|
internal_repeat_4
|
398 |
425 |
1.1e-5 |
PROSPERO |
|
coiled coil region
|
426 |
627 |
N/A |
INTRINSIC |
|
coiled coil region
|
655 |
1247 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1252 |
1280 |
6.61e-7 |
PROSPERO |
|
internal_repeat_4
|
1341 |
1374 |
1.1e-5 |
PROSPERO |
|
internal_repeat_1
|
1347 |
1384 |
9.68e-9 |
PROSPERO |
|
coiled coil region
|
1403 |
1512 |
N/A |
INTRINSIC |
|
coiled coil region
|
1539 |
1582 |
N/A |
INTRINSIC |
|
low complexity region
|
1590 |
1604 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,892,124 (GRCm39) |
Q129* |
probably null |
Het |
| Acad8 |
A |
T |
9: 26,890,620 (GRCm39) |
|
probably null |
Het |
| AK157302 |
T |
C |
13: 21,679,579 (GRCm39) |
I35T |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Calcrl |
A |
T |
2: 84,200,841 (GRCm39) |
W68R |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,238,279 (GRCm39) |
L178F |
probably damaging |
Het |
| Cd59a |
A |
G |
2: 103,934,546 (GRCm39) |
R5G |
probably damaging |
Het |
| Chl1 |
C |
T |
6: 103,694,565 (GRCm39) |
A1091V |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,879,279 (GRCm39) |
F442L |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,469,860 (GRCm39) |
*421Q |
probably null |
Het |
| Csf2ra |
G |
A |
19: 61,215,766 (GRCm39) |
A13V |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,139 (GRCm39) |
T546A |
possibly damaging |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Dock6 |
T |
A |
9: 21,731,690 (GRCm39) |
H1173L |
probably damaging |
Het |
| Dpysl4 |
T |
C |
7: 138,676,192 (GRCm39) |
I328T |
possibly damaging |
Het |
| Dspp |
G |
A |
5: 104,323,321 (GRCm39) |
G155R |
probably damaging |
Het |
| Fbxo33 |
A |
T |
12: 59,251,545 (GRCm39) |
C57* |
probably null |
Het |
| Frrs1 |
T |
A |
3: 116,690,399 (GRCm39) |
V14D |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,113 (GRCm39) |
G96S |
unknown |
Het |
| Gpr155 |
A |
T |
2: 73,174,062 (GRCm39) |
C754* |
probably null |
Het |
| Gpr62 |
A |
T |
9: 106,342,814 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,353,104 (GRCm39) |
P271H |
probably damaging |
Het |
| Kpna3 |
C |
T |
14: 61,640,461 (GRCm39) |
V34I |
probably benign |
Het |
| Lamb1 |
C |
T |
12: 31,316,863 (GRCm39) |
Q71* |
probably null |
Het |
| Lipk |
T |
C |
19: 34,016,507 (GRCm39) |
I245T |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 40,711,719 (GRCm39) |
N3281T |
possibly damaging |
Het |
| Lrp5 |
A |
C |
19: 3,654,094 (GRCm39) |
I1111S |
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,964,058 (GRCm39) |
V1020A |
probably benign |
Het |
| Or4c107 |
G |
A |
2: 88,789,098 (GRCm39) |
C96Y |
possibly damaging |
Het |
| Or8b48 |
G |
A |
9: 38,493,080 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,787 (GRCm39) |
L17P |
probably damaging |
Het |
| Pcdha7 |
A |
T |
18: 37,108,960 (GRCm39) |
T662S |
probably damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,612 (GRCm39) |
D444G |
probably damaging |
Het |
| Pkd2 |
T |
G |
5: 104,646,405 (GRCm39) |
D737E |
probably damaging |
Het |
| Plcd4 |
C |
T |
1: 74,590,249 (GRCm39) |
R161W |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,391,734 (GRCm39) |
Y1494C |
possibly damaging |
Het |
| Rad17 |
A |
C |
13: 100,770,369 (GRCm39) |
|
probably null |
Het |
| Rbm17 |
A |
T |
2: 11,590,485 (GRCm39) |
F390Y |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,489,315 (GRCm39) |
L22Q |
probably damaging |
Het |
| Serpina1f |
T |
C |
12: 103,656,046 (GRCm39) |
D394G |
possibly damaging |
Het |
| Serpina1f |
G |
A |
12: 103,659,890 (GRCm39) |
Q131* |
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,842,752 (GRCm39) |
S56C |
probably damaging |
Het |
| St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,188,254 (GRCm39) |
L900* |
probably null |
Het |
| Tbx18 |
T |
C |
9: 87,595,566 (GRCm39) |
D336G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,514,779 (GRCm39) |
Y135* |
probably null |
Het |
| Tjp2 |
A |
G |
19: 24,073,963 (GRCm39) |
L1108P |
probably benign |
Het |
| Tmem150c |
C |
A |
5: 100,243,524 (GRCm39) |
V8L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,746,789 (GRCm39) |
H4753Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,354,540 (GRCm39) |
I589N |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,927,592 (GRCm39) |
R139Q |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,378,414 (GRCm39) |
Y174C |
probably damaging |
Het |
|
| Other mutations in Crocc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Crocc2
|
APN |
1 |
93,144,766 (GRCm39) |
nonsense |
probably null |
|
|
Popper
|
UTSW |
1 |
93,111,126 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0396:Crocc2
|
UTSW |
1 |
93,151,936 (GRCm39) |
splice site |
probably benign |
|
|
R1382:Crocc2
|
UTSW |
1 |
93,144,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4608:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4609:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4619:Crocc2
|
UTSW |
1 |
93,141,372 (GRCm39) |
missense |
probably benign |
|
|
R4646:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4647:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4648:Crocc2
|
UTSW |
1 |
93,096,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4767:Crocc2
|
UTSW |
1 |
93,130,578 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4811:Crocc2
|
UTSW |
1 |
93,133,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5046:Crocc2
|
UTSW |
1 |
93,133,624 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5389:Crocc2
|
UTSW |
1 |
93,143,363 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5632:Crocc2
|
UTSW |
1 |
93,145,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6128:Crocc2
|
UTSW |
1 |
93,122,123 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6142:Crocc2
|
UTSW |
1 |
93,118,201 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6258:Crocc2
|
UTSW |
1 |
93,141,360 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6260:Crocc2
|
UTSW |
1 |
93,141,360 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6288:Crocc2
|
UTSW |
1 |
93,122,227 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6312:Crocc2
|
UTSW |
1 |
93,143,432 (GRCm39) |
nonsense |
probably null |
|
|
R6335:Crocc2
|
UTSW |
1 |
93,130,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6339:Crocc2
|
UTSW |
1 |
93,141,754 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6371:Crocc2
|
UTSW |
1 |
93,143,353 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6439:Crocc2
|
UTSW |
1 |
93,111,126 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6442:Crocc2
|
UTSW |
1 |
93,112,775 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6545:Crocc2
|
UTSW |
1 |
93,140,659 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6619:Crocc2
|
UTSW |
1 |
93,118,223 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6898:Crocc2
|
UTSW |
1 |
93,143,304 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7170:Crocc2
|
UTSW |
1 |
93,121,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7378:Crocc2
|
UTSW |
1 |
93,121,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7395:Crocc2
|
UTSW |
1 |
93,143,829 (GRCm39) |
nonsense |
probably null |
|
|
R7461:Crocc2
|
UTSW |
1 |
93,122,311 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7613:Crocc2
|
UTSW |
1 |
93,122,311 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7831:Crocc2
|
UTSW |
1 |
93,143,195 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7915:Crocc2
|
UTSW |
1 |
93,141,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Crocc2
|
UTSW |
1 |
93,130,578 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8171:Crocc2
|
UTSW |
1 |
93,116,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8193:Crocc2
|
UTSW |
1 |
93,117,888 (GRCm39) |
splice site |
probably null |
|
|
R8494:Crocc2
|
UTSW |
1 |
93,144,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Crocc2
|
UTSW |
1 |
93,120,847 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8918:Crocc2
|
UTSW |
1 |
93,129,144 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8970:Crocc2
|
UTSW |
1 |
93,116,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9458:Crocc2
|
UTSW |
1 |
93,145,516 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9482:Crocc2
|
UTSW |
1 |
93,143,106 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9522:Crocc2
|
UTSW |
1 |
93,117,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9597:Crocc2
|
UTSW |
1 |
93,118,217 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9703:Crocc2
|
UTSW |
1 |
93,130,444 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Crocc2
|
UTSW |
1 |
93,154,414 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Crocc2
|
UTSW |
1 |
93,141,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTACCAGTCACCAACTCTAG -3'
(R):5'- CCTGCTTCAGACCTGACTAG -3'
Sequencing Primer
(F):5'- GTCAGAACCTTAATTGTACCGGG -3'
(R):5'- AGGATCACTGGTCACCTACTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation